Summary IFGeneRA Project 1 Fragile X syndrome is the most common inherited cause of intellectual disability worldwide. It is transmitted as an X-linked recessive condition, primarily affecting males with mental retardation but also causing early menopause in about 20% of female carriers. Following the establishment of a Medical Genetic Unit in Yaound Cameroon, the consultation of a mother of two sons affected with mental retardation allowed a molecular analysis that revealed FXS (Family 1). The patients belonged to an exceptionally big family with multiple affected members from Babadjou, a village in rural Cameroon. The hallmark of Babadjou is the large number of families with ? 1 members affected with mental retardation. To explain the disease inheritance pattern, the belief is that during the foundation of this village, Chief K killed a mentally delayed individual, and that this man cursed Chief K and his descendants. Thereafter, all 20 wives of Chief K gave birth to at least one grandchild with mental retardation. By revealing FXS, the genetic testing has in some way revealed an explanation for ?chief K's legendary curse?. The founder of the village was likely ?a normal transmitting male?, meaning that all his daughters would have been carriers and 50% of the grand-sons would be affected by FXS. The Babadjou Royal Family and village offers a unique opportunity to study, in the context of rural Africa, the psychological, social and genetic counselling impact of the return of individual genetic results. We will use the findings of this project to produce a documentary on the experience of affected families members and the lay public on the relation between genetic and traditional knowledge. Aim 1: To retrospectively explore the impact of the FXS diagnosis on Family 1, who received results of their diagnosis in 2011, and members of their extended family. Under this aim, we will explore the impact of receiving a genetic diagnosis on the mother of Family 1 and any individuals she shared her sons' diagnosis with. Aim 2: To explore community views on FXS, the curse explaining patterns of inheritance, traditional knowledge of genetics and gendered blame. Under this aim, we will conduct an ethnographic study of the Babadjou community using participant observations, in-depth interviews and focus group discussions to better understand the impact of FXS on the community, explore explanatory disease models (`the curse') and traditional understandings of genetics.